A5009523093- Prenatal Screening and Diagnostics
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Retinal Development and Disorders
- Neurogenetic and Muscular Disorders Research
- Hematopoietic Stem Cell Transplantation
- Genomics and Rare Diseases
- Parvovirus B19 Infection Studies
- Lysosomal Storage Disorders Research
- Genomic variations and chromosomal abnormalities
- Chronic Myeloid Leukemia Treatments
- Wnt/β-catenin signaling in development and cancer
- Cancer-related gene regulation
- Immunodeficiency and Autoimmune Disorders
- Mitochondrial Function and Pathology
- Medical Imaging and Pathology Studies
- Parathyroid Disorders and Treatments
- Skin and Cellular Biology Research
- Genetics and Neurodevelopmental Disorders
- Eosinophilic Disorders and Syndromes
- Telomeres, Telomerase, and Senescence
- Congenital heart defects research
- Glycosylation and Glycoproteins Research
- Glycogen Storage Diseases and Myoclonus
- Dermatological and Skeletal Disorders
- Williams Syndrome Research
Division of Cancer Epidemiology and Genetics
2021-2024
National Cancer Institute
2021-2024
Cancer Genetics (United States)
2024
Generation Foundation
2021-2023
Biotechnology Research Center
2013-2023
Hope Foundation
2021-2023
Islamic Azad University Medical Branch of Tehran
2023
Shahid Beheshti University of Medical Sciences
2023
Islamic Azad University, Tehran
2023
National Institutes of Health
2023
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) proven useful to overcome this limitation. To uncover "hidden mutations" such as copy number variations (CNVs) non-coding regions, we extended the use NGS data by quantitative readout for exons 55 RP LCA 126 patients, including 5' exons. We detected...
To investigate the performance of first-trimester screening for chromosomal abnormalities by integrated application nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) pregnancy-associated plasma protein-A (PAPP-A) at a one-stop clinic assessment risk (OSCAR).In total, 13,706 fetuses in 13,437 pregnancies were screened during period 5 years. Maternal...
Prenatal diagnosis using conventional molecular genetic techniques may be encountered with some limitations when the disease causing mutation is unknown. Here, we report on prenatal of tyrosinemia in a family consanguineous marriage and two affected children whom no had been identified before pregnancy. Mutation analyses three genes associated including FAH, TAT HPD were carried out fetal DNA sample Next Generation Sequencing. A heterozygous nonsense (p.Arg237Ter) FAH gene was detected...
Severe aplastic anaemia (SAA) is a rare and life-threatening bone marrow failure disorder. We used data from the transplant outcomes in study to characterize mosaic chromosomal alterations (mCAs) peripheral blood of 738 patients with acquired SAA evaluate their associations telomere length (TL) survival post-haematopoietic cell (HCT). The median age at HCT was 20.4 years (range = 0.2-77.4). Patients had shorter TL than expected for (median percentile age: 35.7th; range <1-99.99). mCAs were...
Abstract Background Interstitial Microdeletion and Microduplication syndromes have been proposed as a significant cause of sporadic intellectual disability (ID) but the role such aberrations in familial ID has not yet investigated. As balanced chromosomal abnormalities commonly lead to recurrent or multiple congenital anomalies, this study was designed evaluate whether it justified investigate patients. Three hundred twenty eight patients from 101 unrelated Iranian families with more than...
Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination clinical, biochemical, and genetic investigations. The aim this study was molecular characterization the largest cohort Iranian MPS patients (302 from 289 unrelated families), along with tracking their ethnicity geographical origins. 185/289 were studied using an IEM-targeted NGS panel followed by complementary Sanger sequencing, which led to diagnosis 154 5 non-MPS IEMs...
Hematopoietic stem cell transplantation (SCT) is the only therapeutic option in a number of heritable hematologic disorders and cancers. Many parents families fail to find an HLA-identical donor for their affected family member. In such cases, conceiving "savior baby" remains option, especially countries without access national registries. By means next generation sequencing (NGS) techniques, single experiment on single-cell products vitro fertilization, healthy embryo can be implanted...
Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome, mostly occurs sporadically. Although few cases of familial WBS have been reported in the literature, molecular confirmation has not carried out all them. Here, we report on eighth clinically and molecularly confirmed inherited detected family with 'familial mental retardation.' A comprehensive screening approach to retardation that included stepwise karyotyping, assessment for fragile-X subtelomeric rearrangements known...
Cryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role such aberrations in familial ID has not yet studied. As positive family history had an important and predicting factor rearrangements, it was assumed that contribution would be much more than ones. Three hundred twenty two patients from 102 unrelated families with first degree relatives investigated. Assessment were carried out using Multiplex Ligation-Dependent...
Abstract JAK2 V617F is the most common driver mutation in primary or secondary myelofibrosis for which allogeneic hematopoietic cell transplantation (HCT) only curative treatment. Knowledge of prognostic utility alterations HCT setting limited. We identified all patients with MF who received between 2000 and 2016 had a pre-HCT blood sample (N = 973) available at Center International Blood Marrow Transplant Research biorepository. PacBio sequencing single nucleotide polymorphism–array...